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LAMP3 might change the lysosome function after the transfer of peptide MHC class II molecules to the surface of dendritic cells. It's over expression is associated with an enhanced metastatic potential and may be a prognostic factor for cervical cancer. Expressed in lymphoid organs and dendritic cells and lung. Up regulated in carcinomas of the esophagus, colon, rectum, ureter, stomach, breast, fallopian tube, thyroid and parotid tissues.

Inhibition of protein phosphatase 2A (PP2A) activity has been identified as a prerequisite for the transformation of human cells. The protein, designated Cancerous Inhibitor of PP2A (CIP2A, p90 Autoantigen), interacts directly with the oncogenic transcription factor c-Myc, inhibits PP2A activity toward c-Myc serine 62 (S62), and thereby prevents c-Myc proteolytic degradation. In addition to its function in c-Myc stabilization, p90 Autoantigen promotes anchorage-independent cell growth and in

MLC1 is a 377 amino acid multi-pass membrane protein that may serve as a non-selective neuronal cation channel in brain. Mutant MLC1 proteins that show impaired folding have been corrected in vitro with the addition of a Ca(2+)-ATPase inhibitor, curcumin. Mutations in the gene encoding MLC1 is the cause of megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, a rare syndrome characterized early in life by progressive brain destruction causing mental re

PTBP-2 is a member of the polypyrimidine tract binding family of proteins. Predominantly expressed in brain, but also found in heart and skeletal muscle, PTBP-2 localizes to the nucleus and contains four RRM (RNA recognition motif) domains. PTBP-2 functions as an RNA-binding protein associated in a complex that is involved in the regulation of exon splicing and the stabilization of mRNAs in the cytoplasm. Six isoforms exist for PTBP-2 due to alternative splicing events. Isoforms 1 and 2 (al

This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of t

This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-ons